title: [Polymorphism distribution of ST14(DXS52) VNTR in normal individuals in northeastern region of China and its application in gene diagnosis of hemophilia A].
abstract: OBJECTIVE
  To find out the polymorphism distribution of St14(DXS52) variable number of tandem repeat (VNTR) in normal individuals in the northeastern region of China and hence provide a proof for the gene diagnosis of hemophilia A.
  
  
  METHODS
  60 unrelated individuals (male 12, female 48) in the northeastern region of China were detected using PCR method.
  
  
  RESULTS
  8 allelic fragments detected were 0.7kb(A), 1. 3kb(B), 1.39kb(C), 1.57kb(D), 1.63kb(E), 1.69kb(F), 2.1kb(G), 2. 4kb(H) long in turn. Their frequencies were A 0.38, B0.046, C0.232, E0.111, F0.130, G0.009, H0.009 respectively. Polymorphism information contents (PIC) was 76.36%. Gene diagnosis of 3 hemophilia A patients was performed using this VNTR polymorphism. In one family a female was determined to be a normal individual, not a carrier; 2 male fetus patients were detected in other 2 families.
  
  
  CONCLUSIONS
  St14 is a valuable polymorphism marker for gene diagnosis of hemophilia A.
authors.affiliation: Department of Medical Genetics, China Medical University, Shenyang, 110001 P. R. China.
authors.forename: J
authors.initials: J
authors.lastname: Chunlian
authors.forename: L
authors.initials: L
authors.lastname: Changkun
authors.forename: S
authors.initials: S
authors.lastname: Jun
authors.forename: J
authors.initials: J
authors.lastname: Li
authors.forename: D
authors.initials: D
authors.lastname: Wenhan
authors.forename: Z
authors.initials: Z
authors.lastname: Xue
authors.forename: S
authors.initials: S
authors.lastname: Kailai
mesh_terms: D005260:Female; D008040:Genetic Linkage; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012091:Repetitive Sequences, Nucleic Acid